Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients

por Jauregui, Ruben, Chan, Lawrence, Oh, Jin Kyun, Cho, Ahra, Sparrow, Janet R., Tsang, Stephen H.
Publicado 2020

Nutrigenetic reprogramming of oxidative stress

por Ryu, Joseph, Gulamhusein, Huzeifa, Oh, Jin Kyun, Chang, Joseph H., Chen, Jocelyn, Tsang, Stephen H.
Publicado 2021

Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65

por Jauregui, Ruben, Cho, Ahra, Oh, Jin Kyun, Tanaka, Akemi J., Sparrow, Janet R., Tsang, Stephen H.
Publicado 2020

Short-Wavelength and Near-Infrared Autofluorescence in Patients with Deficiencies of the Visual Cycle and Phototransduction

por Oh, Jin Kyun, Lima de Carvalho, Jose Ronaldo, Ryu, Joseph, Tsang, Stephen H., Sparrow, Janet R.
Publicado 2020

Multimodal imaging reveals retinoschisis masquerading as retinal detachment in patients with choroideremia

por Greig, Luciano C., Gutierrez, Karen G., Oh, Jin Kyun, Levi, Sarah R., Korot, Edward, Tsang, Stephen H., Mahajan, Vinit B.
Publicado 2022

Sequential multiple retinal vein occlusions and transient ischemic attack in MTHFR polymorphism and protein S deficiency

por Cho, Ahra, Ragi, Sara D., Oh, Jin Kyun, Lima de Carvalho, Jose Ronaldo, Ryu, Joseph, Yang, Ber‐Yuh, Tsang, Stephen H.
Publicado 2020

Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes

por Kolesnikova, Masha, Lima de Carvalho, Jose Ronaldo, Oh, Jin Kyun, Soucy, Megan, Demirkol, Aykut, Kim, Angela H., Tsang, Stephen H., Breazzano, Mark P.
Publicado 2023

Retinal Manifestations of Mitochondrial Oxidative Phosphorylation Disorders

por Oh, Jin Kyun, Lima de Carvalho, Jose Ronaldo, Nuzbrokh, Yan, Ryu, Joseph, Chemudupati, Teja, Mahajan, Vinit B., Sparrow, Janet R., Tsang, Stephen H.
Publicado 2020

A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease

por Kolesnikova, Masha, Oh, Jin Kyun, Wang, Jiali, Lee, Winston, Zernant, Jana, Su, Pei-Yin, Kim, Angela H., Jenny, Laura A., Yang, Tingting, Allikmets, Rando, Tsang, Stephen H.
Publicado 2022

Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa

por Oh, Jin Kyun, Lima de Carvalho, Jose Ronaldo, Sun, Young Joo, Ragi, Sara, Yang, Jing, Levi, Sarah R., Ryu, Joseph, Bassuk, Alexander G., Mahajan, Vinit B., Tsang, Stephen H.
Publicado 2019

Comparative Analysis of Functional and Structural Decline in Retinitis Pigmentosas

por Cabral, Thiago, Lima de Carvalho, Jose Ronaldo, Kim, Joonpyo, Oh, Jin Kyun, Levi, Sarah R., Park, Karen Sophia, Duong, Jimmy K., Park, Junhyung, Boudreault, Katherine, Belfort, Rubens, Tsang, Stephen H.
Publicado 2020

Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series

por Oh, Jin Kyun, Vargas Del Valle, José G., Lima de Carvalho, Jose Ronaldo, Sun, Young Joo, Levi, Sarah R., Ryu, Joseph, Yang, Jing, Nagasaki, Takayuki, Emanuelli, Andres, Rasool, Nailyn, Allikmets, Rando, Sparrow, Janet R., Izquierdo, Natalio J., Duncan, Jacque L., Mahajan, Vinit B., Tsang, Stephen H.
Publicado 2022

Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome

por da Palma, Mariana Matioli, Igelman, Austin D., Ku, Cristy, Burr, Amanda, You, Jia Yue, Place, Emily M., Wang, Nan-Kai, Oh, Jin Kyun, Branham, Kari E., Zhang, Xinxin, Ahn, Jeeyun, Gorin, Michael B., Lam, Byron L., Ronquillo, Cecinio C., Bernstein, Paul S., Nagiel, Aaron, Huckfeldt, Rachel, Cabrera, Michelle T., Kelly, John P., Bakall, Benjamin, Iannaccone, Alessandro, Hufnagel, Robert B., Zein, Wadih M., Koenekoop, Robert K., Birch, David G., Yang, Paul, Fahim, Abigail T., Pennesi, Mark E.
Publicado 2021